Article
Biochemistry & Molecular Biology
Shuai Liu, Weiming Gong, Lu Liu, Ran Yan, Shukang Wang, Zhongshang Yuan
Summary: Gene-level analysis helps alleviate the limitations of GWAS in studying Juvenile idiopathic arthritis (JIA), with 11 previously reported genes and newly identified plausible JIA-associated genes found among 33 overlapped significant genes. Enrichment analysis further highlights 4 KEGG pathways and 10 GO terms. The findings contribute to understanding genetic determinants and potential therapeutic targets for JIA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Barbara Schormair, Chen Zhao, Aaro Salminen, Konrad Oexle, Juliane Winkelmann
Summary: This study aimed to reassess the associations between candidate genes and idiopathic restless legs syndrome (RLS) in a large case-control dataset. The findings from previous candidate gene studies were not confirmed in the replication sample, indicating that these associations were likely false positives. The study highlights the need for large sample sizes and stringent significance thresholds in future association studies for RLS.
Article
Rheumatology
Tiit Nikopensius, Priit Niibo, Toomas Haller, Triin Jagomagi, Ulle Voog-Oras, Neeme Tonisson, Andres Metspalu, Mare Saag, Chris Pruunsild
Summary: This study identified 12 novel non-HLA loci associated with susceptibility to JIA in Estonian patients, expanding the known risk loci for JIA. The results also demonstrated overlapping genetic risk loci between JIA and other autoimmune diseases.
CLINICAL RHEUMATOLOGY
(2021)
Article
Rheumatology
Ruoyang Feng, Mengnan Lu, Chunyan Yin, Ke Xu, Lin Liu, Peng Xu
Summary: By integrating TWAS and mRNA expression profiles, this study identified genes, biological pathways, and environmental chemicals associated with juvenile idiopathic arthritis (JIA). A total of 1481 genes were found to be associated with JIA, and 154 differentially expressed genes were identified. Eight overlapping genes were obtained through comparison. GO and KEGG enrichment analyses yielded 163 pathways, and PPI network analysis as well as MCODE resolution identified eight clusters. Chemical gene set enrichment analysis identified 287 environmental chemicals associated with JIA.
ARTHRITIS RESEARCH & THERAPY
(2023)
Article
Pediatrics
Sarah L. N. Clarke, Hannah J. Jones, Gemma C. Sharp, Kayleigh E. Easey, Alun D. Hughes, Athimalaipet Ramanan, Caroline L. Relton
Summary: This study found that genetic risk for JIA is associated with multiple cardiovascular risk factors, supporting the hypothesis of increased cardiovascular risk in JIA. The findings suggest that cardiovascular risk is a core feature of JIA, rather than secondary to the disease activity/treatment, and that cardiovascular risk counseling should be included in patient care.
PEDIATRIC RHEUMATOLOGY
(2022)
Article
Biochemical Research Methods
Kleanthi Lakiotaki, Zaharias Papadovasilakis, Vincenzo Lagani, Stefanos Fafalios, Paulos Charonyktakis, Michail Tsagris, Ioannis Tsamardinos
Summary: This article introduces an automated machine learning approach customized for genomic data, which can provide reliable predictive and diagnostic models and discover genetic variants with higher predictive performance. The approach can also compute individual risk prediction scores, generalize to new, unseen data, and better differentiate causal variants from other highly correlated variants.
Article
Clinical Neurology
Manuela M. X. Tan, Michael A. Lawton, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Miriam Pollard, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Sarah L. Marrinan, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, John Hardy, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Huw R. Morris
Summary: The study found that genetic variants associated with Parkinson's disease risk are not linked to disease progression. The APOE epsilon 4 tagging variant was significantly associated with cognitive progression, while ATP8B2 gene showed a nominal association with motor progression. The new method shows promise in improving the measurement of symptom progression in PD.
MOVEMENT DISORDERS
(2021)
Article
Rheumatology
Xinyi Meng, Xiaoyuan Hou, Ping Wang, Joseph T. Glessner, Hui-Qi Qu, Michael E. March, Sipeng Zhang, Xiaohui Qi, Chonggui Zhu, Kenny Nguyen, Xinyi Gao, Xiaoge Li, Yichuan Liu, Wentao Zhou, Shuyue Zhang, Junyi Li, Yan Sun, Jie Yang, Patrick M. A. Sleiman, Qianghua Xia, Hakon Hakonarson, Jin Li
Summary: This study identified rare coding variants in JIA patients using RNA-seq data, including some reported causal variants. These variants were partially replicated in polyarticular patients and shared common variants with genes associated with autoimmune diseases. Genes related to immune pathways were enriched for rare coding variants and differentially expressed genes.
ANNALS OF THE RHEUMATIC DISEASES
(2021)
Review
Cell Biology
Carina Mauersberger, Heribert Schunkert, Hendrik B. Sager
Summary: While the importance of inflammation in atherosclerosis is recognized, the exact molecular processes remain unclear. Modern genetics, specifically genome-wide association studies, have revealed many loci related to inflammatory processes in coronary artery disease, but translating these findings into specific molecular mechanisms is still challenging.
Article
Immunology
Jiawen Xu, Jun Ma, Yi Zeng, Haibo Si, Yuangang Wu, Shaoyun Zhang, Bin Shen
Summary: In this study, a cross-tissue transcriptome-wide association study was conducted to identify a group of genes and pathways associated with JIA, providing novel clues to uncover the pathogenesis of JIA.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Agriculture, Dairy & Animal Science
G. Sahana, Z. Cai, M. P. Sanchez, A. C. Bouwman, D. Boichard
Summary: Genotype data from dairy cattle selection programs greatly facilitate GWAS to identify variants related to economic traits. Results can enhance the accuracy of genomic prediction, analyze more complex models, elucidate the genetic architecture of a trait, and decipher the underlying biology of traits.
JOURNAL OF DAIRY SCIENCE
(2023)
Review
Cardiac & Cardiovascular Systems
Tejas P. Singh, Matt A. Field, Matthew J. Bown, Gregory T. Jones, Jonathan Golledge
Summary: This study systematically reviewed previous AAA GWAS and identified 33 SNPs associated with AAA diagnosis at genome-wide significance. However, the association between SNPs and AAA growth was not adequately examined. Previous GWAS have various design limitations, such as inconsistent case and control ascertainment and limited phenotyping of the AAAs.
Review
Physiology
Roddy Walsh, Sean J. Jurgens, Jeanette Erdmann, Connie R. Bezzina
Summary: Genome-wide association studies (GWAS) have identified common genetic variants associated with traits and diseases, providing insights into genetic architecture, correlations across traits and diseases, and potential clinical applications. The utilization of GWAS in cardiovascular diseases and associated phenotypic traits has been facilitated by multicenter registry studies and large biobank data sets. However, challenges still exist in this field and need to be addressed.
PHYSIOLOGICAL REVIEWS
(2023)
Article
Agronomy
Shujun Wei, Ryokei Tanaka, Taiji Kawakatsu, Shota Teramoto, Nobuhiro Tanaka, Matthew Shenton, Yusaku Uga, Shiori Yabe
Summary: Root system architecture plays a crucial role in rice production, and genetic control of this trait is important for genetic improvement. In this study, GWAS, TWAS, and eGWAS were conducted to identify candidate genes responsible for root phenotypes in rice. OsENT1 was prioritized as the most plausible candidate gene due to its strong negative correlation with multiple root phenotypes. Other candidate genes, including OsEXPA31, OsSPL14, OsDEP1, and OsDEC1, were also identified using TWAS. These findings provide new insights for molecular breeding of root system architecture.
Article
Medicine, General & Internal
Monika Ostrowska, Emil Michalski, Piotr Gietka, Malgorzata Manczak, Magdalena Posadzy, Iwona Sudol-Szopinska
Summary: This study compared MRI findings between patients clinically suspected of Juvenile Idiopathic Arthritis (JIA) and patients with ankle arthralgia of unknown cause. The results showed that inflammatory features were observed on MRI, with tenosynovitis being significantly more common in JIA patients. However, the MRI summarized score did not effectively differentiate between JIA and non-JIA patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Immunology
Shane Kelly, Katherine J. L. Jackson, Timothy J. Peters, Dan Suan, Christopher C. Goodnow
Summary: This study successfully identified and characterized PR3-specific B cells from the peripheral blood of patients with PR3 autoantibodies. These cells exhibited specific immunological features, suggesting that PR3 self-reactivity may occur early in B-cell development.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Ana Merino-Vico, Jan Piet van Hamburg, Paul Tuijnenburg, Giulia Frazzei, Aram Al-Soudi, Carlo G. Bonasia, Boy Helder, Abraham Rutgers, Wayel H. Abdulahad, Coen A. Stegeman, Jan-Stephan Sanders, Laura Bergamaschi, Paul A. Lyons, Theo Bijma, Laura van Keep, Kirsten Wesenhagen, Aldo Jongejan, Henric Olsson, Niek de Vries, Taco W. Kuijpers, Peter Heeringa, Sander W. Tas
Summary: B lineage cells play a critical role in ANCA-associated vasculitis (AAV), and the transcription factor NF-kappa B may be a potential therapeutic target for AAV and other autoimmune diseases with prominent B cell involvement.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Christopher Nelke, Thomas Muentefering, Derya Cengiz, Lukas Theissen, Vera Dobelmann, Christina B. Schroeter, Helena Block, Corinna Preu, Alexander P. E. Michels, Stefanie Lichtenberg, Marc Pawlitzki, Steffen Pfeuffer, Niklas Huntemann, Alexander Zarbock, Thorben Briese, Christoph Kittl, Carsten Dittmayer, Thomas Budde, Ingrid E. Lundberg, Werner Stenzel, Sven G. Meuth, Tobias Ruck
Summary: K2P2.1 plays a regulatory role in the autoimmune response of idiopathic inflammatory myopathies (IIMs), by regulating inflammatory cell response, adhesion, and transmigration in both endothelial and skeletal muscle cells. Inhibiting K2P2.1 enhances the inflammatory response, while activating K2P2.1 improves the disease course.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Xuan Zhang, Jun Xia, Ying Jiang, David S. Pisetsky, Josef S. Smolen, Rong Mu, Shengming Dai, Michael E. Weinblatt, Tore K. Kvien, Juan Li, Thomas Doerner, Yu Zhang, Liwei Lu, Chengde Yang, Pingting Yang, Yuan Zhang, Chenchen Xu, Zhan Zhao, Peter E. Lipsky
Summary: The study suggests that TwHF may be as effective as MTX in treating active RA, and combination therapy may be more effective than monotherapy.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Maya F. Amjadi, Maxwell H. Parker, Ryan R. Adyniec, Zihao Zheng, Alex M. Robbins, S. Janna Bashar, Michael F. Denny, Sara S. Mccoy, Irene M. Ong, Miriam A. Shelef
Summary: Rheumatoid factors (RFs) are polyreactive antibodies that can bind disease-specific epitopes. Recent studies have found that RFs in COVID-19 can bind novel IgG epitopes, which provides new insights into the mechanism of RFs.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Johanne Liberatore, Yann Nguyen, Jerome Hadjadj, Pascal Cohen, Luc Mouthon, Xavier Puechal, Loic Guillevin, Benjamin Terrier
Summary: B-cell depletion induced by rituximab (RTX) in ANCA-associated vasculitis (AAV) can lead to decreased gammaglobulin levels, which is associated with an increased risk of relapse and severe infections. Older age, low gammaglobulin levels, and receiving pulses of methylprednisolone at induction therapy are risk factors for gammaglobulin decline.
JOURNAL OF AUTOIMMUNITY
(2024)
